Axenfeld-Rieger syndrome is a genetic disease affecting multiple organ systems. In the eye, this condition manifests with varying degrees of anterior segment dysgenesis and carries a high risk of glaucoma. Other associated systemic issues include cardiovascular outflow tract malformations, craniofacial abnormalities and pituitary abnormalities, which can result in severe endocrinological sequelae. Recent advances in molecular genetics have identified two major genes, PITX2 and FOXC1, demonstrating a wide spectrum of mutations, which aids in the molecular diagnosis of the disease, although evidence exists to implicate other loci in this condition. The management of individuals affected by Axenfeld-Rieger syndrome requires a multidisciplinary approach and would include dedicated surveillance and management of glaucoma, sensorineural hearing loss, and cardiac, endocrinological, craniofacial and orthopaedic abnormalities.
- paediatric glaucoma
- embryology and development
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Literature search Keywords ‘Axenfeld’, ‘Rieger’, ‘anterior segment dysgenesis’ were searched using the PubMed database, most recently on 15 July 2011. All abstracts were browsed, and those relevant to the major topics outlined above were reviewed and summarised in the body of the text.
Competing interests None.
Provenance and peer review Not commissioned; externally peer reviewed.